DNPEP (Aspartyl Aminopeptidase)
Gene encoding a zinc-dependent aminopeptidase involved in peptide processing and blood pressure regulation
Gene Information Card
| Symbol | DNPEP |
|---|---|
| Full Name | Aspartyl Aminopeptidase |
| Gene Type | protein-coding |
| Chromosomal Location | 2q35 |
| NCBI Gene ID | 23549 ncbi.nlm.nih.gov/gene/23549 |
| Ensembl ID | ENSG00000115956 |
| UniProt ID | Q9UL52 |
| OMIM ID | 611457 |
| HGNC ID | 2981 |
| Aliases | DAP, DPP, MGC10744 |
Description
DNPEP encodes aspartyl aminopeptidase (DAP), a zinc-dependent metallopeptidase that preferentially cleaves N-terminal aspartate and glutamate residues from peptides. The enzyme is involved in the processing of angiotensin II and other bioactive peptides, playing a role in blood pressure regulation and protein turnover. DNPEP is ubiquitously expressed and has been implicated in hypertension and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertension | DNPEP cleaves angiotensin II; altered activity may affect blood pressure regulation. | PMID: 15159495 |
| Colorectal cancer | Overexpression of DNPEP observed in tumor tissues; may influence cell proliferation. | COSMIC: DNPEP |
| Breast cancer | Somatic mutations and altered expression reported in breast cancer samples. | COSMIC: DNPEP |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.3 | Medium |
| Liver | 9.8 | Medium |
| Small intestine | 8.5 | Medium |
| Brain | 6.2 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.2 | High expression |
| HeLa | 11.5 | Moderate expression |
| HepG2 | 10.1 | Moderate expression |
| MCF7 | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | 0.001% (gnomAD) | Unknown functional effect |
| c.457G>A (p.Gly153Ser) | Missense | 0.002% (gnomAD) | Unknown functional effect |
| c.784_785insA | Frameshift | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift insertions (e.g., c.784_785insA) are predicted to cause premature truncation and loss of enzymatic activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported for DNPEP.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for DNPEP.
View complete mutation data：
Gene Ontology (GO)
| • aminopeptidase activity (GO:0004177) | • metallopeptidase activity (GO:0008237) |
| • zinc ion binding (GO:0008270) | • proteolysis (GO:0006508) |
| • cytoplasm (GO:0005737) | • cytosol (GO:0005829) |
Pathways
• Angiotensin II metabolism (Reactome: R-HSA-2022377)
• Peptide hormone metabolism (Reactome: R-HSA-2980736)
Protein Summary
Aspartyl aminopeptidase (DAP) is a homodimeric zinc metalloenzyme that catalyzes the removal of N-terminal acidic amino acids (aspartate and glutamate) from peptides. It is widely expressed, with highest levels in kidney and liver. DAP participates in the degradation of angiotensin II, thereby modulating vasoconstriction and blood pressure. The enzyme also contributes to general intracellular peptide turnover. Structural studies reveal a catalytic domain with a zinc-binding motif essential for activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNPEP Knockout HEK293 Cell Line | EDJ-KQ8060 | Human | 23549 | Details Get a Quote |
| DNPEP Knockout A-549 Cell Line | EDJ-KQ33880 | Human | 23549 | Details Get a Quote |
| DNPEP Knockout HCT 116 Cell Line | EDJ-KQ33881 | Human | 23549 | Details Get a Quote |
| DNPEP Knockout HeLa Cell Line | EDJ-KQ33882 | Human | 23549 | Details Get a Quote |
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